Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
0.010 Biomarker disease BEFREE These findings suggest that the PMM2 is responsible for CDG1 in the Japanese as well as in Caucasians, and CDG1 may be the diagnosis in OPCA of neonatal onset, more often than currently thought. 10392743 1999